Beta-secretase 2

Beta-site APP-cleaving enzyme 2
250px PDB rendering based on 2ewy.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2EWY, 3ZKG, 3ZKI, 3ZKM, 3ZKN, 3ZKQ, 3ZKS, 3ZKX, 3ZL7, 3ZLQ, 4BEL, 4BFB
Identifiers
Symbols	BACE2 ; AEPLC; ALP56; ASP1; ASP21; BAE2; CDA13; CEAP1; DRAP
External IDs	OMIM: 605668 MGI: 1860440 HomoloGene: 22696 ChEMBL: 2525 GeneCards: BACE2 Gene
EC number	3.4.23.45
Gene ontology Molecular function • beta-amyloid binding • aspartic-type endopeptidase activity Cellular component • endosome • endoplasmic reticulum • Golgi apparatus • cell surface • integral component of membrane Biological process • proteolysis • membrane protein ectodomain proteolysis • peptide hormone processing • protein catabolic process • negative regulation of amyloid precursor protein biosynthetic process • beta-amyloid metabolic process Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE BACE2 217867 x at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	25825	56175
Ensembl	ENSG00000182240	ENSMUSG00000040605
UniProt	Q9Y5Z0	Q9JL18
RefSeq (mRNA)	NM_012105	NM_019517
RefSeq (protein)	NP_036237	NP_062390
Location (UCSC)	Chr 21: 41.17 – 41.28 Mb	Chr 16: 97.36 – 97.44 Mb
PubMed search	[1]	[2]

Beta-secretase 2 is an enzyme that in humans is encoded by the BACE2 gene.

BACE2 is a close homolog of BACE1, a protease known to be an important enzyme involved in the cellular pathways that some believe lead to Alzheimer's disease. The physiological function and role of BACE2 in Alzheimer's disease is unknown.

Function

Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease and a frequent complication of Down syndrome. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein by 2 proteases, one of which is the protein encoded by this gene. This gene localizes to the 'Down critical region' of chromosome 21. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease. Three transcript variants encoding different isoforms have been described for this gene. It has been reported that BACE2 is the main protease that mediates the release of the amyloidogenic ectodomain of Pmel17 in melanocytes.

Interactions

BACE2 has been shown to interact with GGA1 and GGA2.

External links

• http://www.ihop-net.org/UniPub/iHOP/gs/129262.html
• Online 'Mendelian Inheritance in Man' (OMIM) 605668